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autistic disorder

By identifying inherited, rare copy number variants specific to families affected by autism spectrum disorders, researchers have identified several biological pathways that may contribute to the disease.

While the use of sequencing in disease research for both Mendelian and complex diseases continued to advance during the year, 2010 also saw the launch of several sequencing-based diagnostic tests, as well as pharmaceutical companies entering the sequencing field and the first examples of sequencing being used to make decisions on patient treatment.

Three scientists using epigenomic approaches in innovative autism research have won $360,000 under Autism Speaks' new pilot awards.

While the findings could have implications for other common diseases, in particular neurological disorders such as autism or schizophrenia, several scientists say it is unlikely that rare mutations play an equally large role in common diseases with late onset, where natural selection has had a different effect.

Two groups recently demonstrated exome sequencing's utility for studying hypolipidemia and sporadic autism, and both research teams are now using the technique to study increasingly complex diseases.

The newly raised $5 million brings the total Series A round amount to $10.8 million, which the company will use to develop its autism program and support its planned commercial service launch in September.

The approval by the New York State Department of Health now makes Quest's XSense Fragile X with Reflex available in all 50 states.

Jonathan Sebat, chief of the Beyster Center for Molecular Genomics of Neuropsychiatric Diseases at the University of California, San Diego, told GenomeWeb Daily News the center will carry out whole-genome sequencing in families with autism and schizophrenia.

An international consortium has identified rare copy number variants that are more common in individuals on the autism spectrum.

While using stem cells allows Stemina to "make the tissue type of interest. It's an all-human system," and allows the firm to build "the best potential in vitro environment to study a particular question," its CEO said.

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A Harvard University professor has been charged with making false claims regarding funds he received from China, the New York Times reports.

Discover magazine reports that animal dissections might dissuade students from science careers, but that a firm has developed synthetic frogs for dissections.

Nature News reports that a US panel is reviewing current guidelines for federally funded gain-of-function viral research.

In PNAS this week: de novo mutation patterns among the Amish, an alternative RNA-seq method, and more.